This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in... See more...

Aliases for BCHE Gene

Aliases for BCHE Gene

  • Butyrylcholinesterase 2 3 5
  • Acylcholine Acylhydrolase 3 4
  • Cholinesterase (Serum) 2 2 3
  • Butyrylcholine Esterase 3 4
  • Pseudocholinesterase 3 4
  • Choline Esterase II 3 4
  • Cholinesterase 1 2 3
  • Cholinesterase 3 4
  • EC 4 50
  • CHE1 3 4
  • E1 2 3
  • EC 3.1.1 50
  • BCHED 3
  • CHE2 3
  • BCHE 5

External Ids for BCHE Gene

Previous HGNC Symbols for BCHE Gene

  • CHE1
  • CHE2

Previous GeneCards Identifiers for BCHE Gene

  • GC03M162635
  • GC03M166531
  • GC03M166892
  • GC03M166811
  • GC03M166973
  • GC03M165490
  • GC03M162859

Summaries for BCHE Gene

Entrez Gene Summary for BCHE Gene

  • This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

GeneCards Summary for BCHE Gene

BCHE (Butyrylcholinesterase) is a Protein Coding gene. Diseases associated with BCHE include Butyrylcholinesterase Deficiency and Chorea, Benign Hereditary. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is ACHE.

UniProtKB/Swiss-Prot Summary for BCHE Gene

  • Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.

Tocris Summary for BCHE Gene

  • Cholinesterases inactivate the neurotransmitter acetylcholine by catalyzing its hydrolysis to choline and acetic acid. Acetylcholinesterase (AChE) is found in erythroid cells and at neuronal synapses, whilst butyrylcholinesterase is mostly expressed in the liver.

Gene Wiki entry for BCHE Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCHE Gene

Genomics for BCHE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCHE Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J165836 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 263.6 +0.8 760 2.6 YY1 TRIM22 REST ZBTB33 SMARCA5 IRF5 ZNF24 IKZF1 RB1 RAD21 BCHE HSALNG0030427 HSALNG0030428 LINC01322 SLITRK3
GH03J165874 Enhancer 0.8 ENCODE 17.2 -37.5 -37528 1.5 HOMEZ KMT2B THAP11 FOXA2 MAFF SAP130 ETV4 GABPB1 DMAP1 ZSCAN9 HSALNG0030430 BCHE HSALNG0030429 HSALNG0030432
GH03J165839 Enhancer 0.9 FANTOM5 Ensembl 7.8 -2.3 -2282 0.7 TRIM22 SMARCA5 BHLHE40 ELF1 ZNF24 IKZF1 BMI1 RB1 HDGF NR2F1 BCHE HSALNG0030429 LINC01322
GH03J165820 Enhancer 0.7 FANTOM5 5.2 +16.4 16417 0.2 TRIM22 ELF1 ZNF24 IKZF1 BMI1 RB1 NR2F1 JUNB TCF12 ZNF217 BCHE HSALNG0030428 HSALNG0030427 HSALNG0030425 LINC01322 SLITRK3
GH03J165875 Enhancer 0.3 ENCODE 11.1 -38.4 -38386 0.2 CREB1 HSALNG0030430 BCHE HSALNG0030429 HSALNG0030432
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCHE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCHE

Top Transcription factor binding sites by QIAGEN in the BCHE gene promoter:
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for BCHE Gene

Latest Assembly
64,559 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
64,520 bases
Minus strand

(GRCh37/hg19 by Ensembl)
64,569 bases
Minus strand

Genomic View for BCHE Gene

Genes around BCHE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCHE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCHE Gene

Proteins for BCHE Gene

  • Protein details for BCHE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K7P8

    Protein attributes for BCHE Gene

    602 amino acids
    Molecular mass:
    68418 Da
    Quaternary structure:
    • Homotetramer; disulfide-linked. Dimer of dimers.

    Three dimensional structures from OCA and Proteopedia for BCHE Gene

neXtProt entry for BCHE Gene

Selected DME Specific Peptides for BCHE Gene


Post-translational modifications for BCHE Gene

  • N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.
  • Glycosylation at Asn45, Asn85, Asn134, Asn269, Asn284, Asn369, Asn483, Asn509, Asn513, and Asn514
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for BCHE Gene

Domains & Families for BCHE Gene

Gene Families for BCHE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for BCHE Gene

Suggested Antigen Peptide Sequences for BCHE Gene

GenScript: Design optimal peptide antigens:
  • Pseudocholinesterase (CHLE_HUMAN)
  • Butyrylcholinesterase, isoform CRA_b (D3DNN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the type-B carboxylesterase/lipase family.
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with BCHE: view

Function for BCHE Gene

Molecular function for BCHE Gene

UniProtKB/Swiss-Prot Function:
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acylcholine + H2O = a carboxylate + choline + H(+); Xref=Rhea:RHEA:21964, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29067, ChEBI:CHEBI:35287; EC=; Evidence={ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:19452557};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18.0 uM for butyrylthiocholine (at 25 degrees Celsius) {ECO:0000269|PubMed:25054547};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging.
GENATLAS Biochemistry:
butyryl cholinesterase,serum,with contradictory evidence for association of the K variant with Alzheimer disease,ApoE4 carrier

Enzyme Numbers (IUBMB) for BCHE Gene

Phenotypes From GWAS Catalog for BCHE Gene

Gene Ontology (GO) - Molecular Function for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding NAS 11569538
GO:0003824 catalytic activity NAS 11569538
GO:0003990 acetylcholinesterase activity IEA,ISS --
GO:0004104 cholinesterase activity IEA,IDA 19452557
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with BCHE: view
genes like me logo Genes that share phenotypes with BCHE: view

Human Phenotype Ontology for BCHE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCHE Gene

MGI Knock Outs for BCHE:

miRNA for BCHE Gene

miRTarBase miRNAs that target BCHE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCHE

No data available for Transcription Factor Targets and HOMER Transcription for BCHE Gene

Localization for BCHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCHE Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCHE gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005641 nuclear envelope lumen IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with BCHE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCHE Gene

Pathways & Interactions for BCHE Gene

genes like me logo Genes that share pathways with BCHE: view

Gene Ontology (GO) - Biological Process for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007584 response to nutrient IEA --
GO:0007612 learning IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0014016 neuroblast differentiation IEA --
GO:0019695 choline metabolic process IEA --
genes like me logo Genes that share ontologies with BCHE: view

No data available for SIGNOR curated interactions for BCHE Gene

Drugs & Compounds for BCHE Gene

(163) Drugs for BCHE Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rivastigmine Approved, Investigational Pharma Target, inhibitor Cholinesterase inhibitor 94
Donepezil Approved Pharma Target, inducer 327
Succinylcholine Approved Pharma Enzyme, substrate 74
Tacrine Approved, Investigational, Withdrawn Pharma Target, inhibitor 12
Demecarium Approved Pharma Target, inhibitor 0

(70) Additional Compounds for BCHE Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
Pentadecanoic acid
  • 15:00
  • C15
  • C15:0
  • N-Pentadecanoic acid
  • Pentadecylic acid

(4) Tocris Compounds for BCHE Gene

Compound Action Cas Number
Ambenonium dichloride Cholinesterase inhibitor 115-79-7
Phenserine Cholinesterase inhibitor 101246-66-6
Physostigmine hemisulfate Cholinesterase inhibitor 64-47-1
Tacrine hydrochloride Cholinesterase inhibitor 1684-40-8

(10) ApexBio Compounds for BCHE Gene

Compound Action Cas Number
Acephate 30560-19-1
Ambenonium dichloride 115-79-7
GSK 264220A 685506-42-7
JW 642 1416133-89-5
KML 29 1380424-42-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
PE 154 1192750-33-6
Physostigmine hemisulfate 64-47-1
Pristimerin 1258-84-0
Tacrine hydrochloride 1684-40-8
genes like me logo Genes that share compounds with BCHE: view

Transcripts for BCHE Gene

mRNA/cDNA for BCHE Gene

10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCHE

Alternative Splicing Database (ASD) splice patterns (SP) for BCHE Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: -
SP3: - -
SP4: - - -

Relevant External Links for BCHE Gene

GeneLoc Exon Structure for

Expression for BCHE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCHE Gene

mRNA differential expression in normal tissues according to GTEx for BCHE Gene

This gene is overexpressed in Fallopian Tube (x5.7), Liver (x5.5), Esophagus - Muscularis (x4.4), and Esophagus - Gastroesophageal Junction (x4.0).

Protein differential expression in normal tissues from HIPED for BCHE Gene

This gene is overexpressed in Serum (34.6), Plasma (13.4), and Synovial fluid (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCHE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCHE

SOURCE GeneReport for Unigene cluster for BCHE Gene:


mRNA Expression by UniProt/SwissProt for BCHE Gene:

Tissue specificity: Detected in blood plasma (at protein level). Present in most cells except erythrocytes.

Evidence on tissue expression from TISSUES for BCHE Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(4.5)
  • Stomach(4.4)
  • Bone marrow(4.3)
  • Blood(3)
  • Muscle(2.6)
  • Adrenal gland(2.4)
  • Heart(2.4)
  • Intestine(2.3)
  • Kidney(2)
  • Lung(2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCHE Gene

Germ Layers:
  • endoderm
  • mesoderm
  • respiratory
  • skeletal muscle
  • lung
genes like me logo Genes that share expression patterns with BCHE: view

Primer products for research

No data available for Protein tissue co-expression partners for BCHE Gene

Orthologs for BCHE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCHE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BCHE 29 30
  • 99.5 (n)
(Bos Taurus)
Mammalia BCHE 29 30
  • 90.14 (n)
(Canis familiaris)
Mammalia BCHE 29 30
  • 89.26 (n)
(Rattus norvegicus)
Mammalia Bche 29
  • 81.51 (n)
(Mus musculus)
Mammalia Bche 29 16 30
  • 80.91 (n)
(Ornithorhynchus anatinus)
Mammalia BCHE 30
  • 78 (a)
(Monodelphis domestica)
Mammalia BCHE 30
  • 75 (a)
(Gallus gallus)
Aves BCHE 29 30
  • 73.19 (n)
(Anolis carolinensis)
Reptilia BCHE 30
  • 67 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495889 29
  • 69.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6018 31
  • 40 (a)
alpha-Est3 31
  • 39 (a)
alpha-Est8 31
  • 36 (a)
CG3841 31
  • 35 (a)
Ace 30 31
  • 34 (a)
Est-P 31
  • 34 (a)
Est-6 31
  • 32 (a)
CG6414 31
  • 30 (a)
CG7529 31
  • 30 (a)
CG8424 31
  • 30 (a)
alpha-Est7 31
  • 30 (a)
Gli 31
  • 30 (a)
BcDNA:GH05741 31
  • 29 (a)
CG4382 31
  • 29 (a)
alpha-Est10 31
  • 29 (a)
alpha-Est9 31
  • 29 (a)
Jhe 31
  • 29 (a)
CG10175 31
  • 28 (a)
clt 31
  • 28 (a)
alpha-Est2 31
  • 28 (a)
alpha-Est4 31
  • 28 (a)
CG5397 31
  • 27 (a)
alpha-Est6 31
  • 27 (a)
alpha-Est5 31
  • 25 (a)
(Caenorhabditis elegans)
Secernentea R173.3 31
  • 42 (a)
ace-1 30 31
  • 40 (a)
T07H6.1a 31
  • 40 (a)
B0238.13 31
  • 37 (a)
T28C12.5 31
  • 37 (a)
Y75B8A.3 31
  • 36 (a)
ace-4 30 31
  • 35 (a)
ace-3 30 31
  • 34 (a)
ace-2 30 31
  • 34 (a)
F13H6.3 31
  • 32 (a)
K11G9.1 31
  • 31 (a)
C52A10.1 31
  • 31 (a)
B0238.1 31
  • 30 (a)
B0238.7 31
  • 30 (a)
C52A10.2 31
  • 30 (a)
K11G9.2 31
  • 30 (a)
K11G9.3 31
  • 30 (a)
F55D10.3 31
  • 29 (a)
T28C12.4a 31
  • 29 (a)
T28C12.4b 31
  • 29 (a)
ges-1 31
  • 29 (a)
F07C4.12 31
  • 29 (a)
K07C11.4 31
  • 29 (a)
F15A8.6 31
  • 28 (a)
Y71H2AM.13 31
  • 28 (a)
T02B5.3 31
  • 26 (a)
T02B5.1 31
  • 23 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06573 29
  • 41.93 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
Species where no ortholog for BCHE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for BCHE Gene

Gene Tree for BCHE (if available)
Gene Tree for BCHE (if available)
Evolutionary constrained regions (ECRs) for BCHE: view image
Alliance of Genome Resources:
Additional Orthologs for BCHE

Paralogs for BCHE Gene

Paralogs for BCHE Gene

(15) SIMAP similar genes for BCHE Gene using alignment to 7 proteins:

  • F8WF14_HUMAN
  • H0Y885_HUMAN
  • H7C4Y0_HUMAN
  • Q96HL2_HUMAN
genes like me logo Genes that share paralogs with BCHE: view

Variants for BCHE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCHE Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
899826 Uncertain Significance: Deficiency of butyrylcholine esterase 165,773,343(-) C/A
899827 Uncertain Significance: Deficiency of butyrylcholine esterase 165,773,369(-) G/A
899828 Uncertain Significance: Deficiency of butyrylcholine esterase 165,773,389(-) C/A
NM_000055.4(BCHE):c.1802G>T (p.Gly601Val)
899829 Uncertain Significance: Deficiency of butyrylcholine esterase 165,773,520(-) A/G
900995 Uncertain Significance: Deficiency of butyrylcholine esterase 165,786,162(-) T/A
NM_000055.4(BCHE):c.1667A>T (p.Lys556Ile)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCHE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BCHE Gene

Variant ID Type Subtype PubMed ID
dgv4977n100 CNV loss 25217958
dgv8724n54 CNV loss 21841781
esv2657931 CNV deletion 23128226
esv3324020 CNV insertion 20981092
esv3342369 CNV insertion 20981092
esv3598510 CNV loss 21293372
esv3598511 CNV loss 21293372
esv3598513 CNV loss 21293372
esv3598515 CNV loss 21293372
esv3598516 CNV gain 21293372
esv3893808 CNV loss 25118596
nsv1004712 CNV gain 25217958
nsv428426 CNV loss 18775914
nsv520596 CNV gain+loss 19592680
nsv592472 CNV gain 21841781

Variation tolerance for BCHE Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.64; 82.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCHE Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCHE Gene

Disorders for BCHE Gene

MalaCards: The human disease database

(51) MalaCards diseases for BCHE Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
butyrylcholinesterase deficiency
  • bched
chorea, benign hereditary
  • bhc
cocaine intoxication
vascular dementia
  • multi infarct dementia
capgras syndrome
  • capgras delusion theory
- elite association - COSMIC cancer census association via MalaCards
Search BCHE in MalaCards View complete list of genes associated with diseases


  • Butyrylcholinesterase deficiency (BCHED) [MIM:617936]: An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. {ECO:0000269 PubMed:10404729, ECO:0000269 PubMed:11928765, ECO:0000269 PubMed:12881446, ECO:0000269 PubMed:1306123, ECO:0000269 PubMed:1349196, ECO:0000269 PubMed:1415224, ECO:0000269 PubMed:15563885, ECO:0000269 PubMed:15781196, ECO:0000269 PubMed:1611188, ECO:0000269 PubMed:16788378, ECO:0000269 PubMed:17700357, ECO:0000269 PubMed:18075469, ECO:0000269 PubMed:18300943, ECO:0000269 PubMed:25054547, ECO:0000269 PubMed:25264279, ECO:0000269 PubMed:2915989, ECO:0000269 PubMed:7634491, ECO:0000269 PubMed:8554068, ECO:0000269 PubMed:8680411, ECO:0000269 PubMed:9110359, ECO:0000269 PubMed:9191541, ECO:0000269 PubMed:9388484, ECO:0000269 PubMed:9543549, ECO:0000269 PubMed:9694584}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for BCHE Gene

apnea,postanesthetic,suxamethonium sensitivity,hypocholinesterasemia or acholinesterasemia

Additional Disease Information for BCHE

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BCHE: view

Publications for BCHE Gene

  1. Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. (PMID: 16788378) Manoharan I … Boopathy R (Pharmacogenetics and genomics 2006) 3 4 22 40 72
  2. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. (PMID: 12881446) Yen T … Stewart PM (Clinical chemistry 2003) 3 4 22 40 72
  3. Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. (PMID: 18300943) Mikami LR … Chautard-Freire-Maia EA (Pharmacogenetics and genomics 2008) 3 4 22 72
  4. Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. (PMID: 18075469) Gätke MR … Viby-Mogensen J (Pharmacogenetics and genomics 2007) 3 4 22 72
  5. Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. (PMID: 12724618) Lando G … Patrosso MC (Pharmacogenetics 2003) 3 22 40 72

Products for BCHE Gene

Sources for BCHE Gene